Canonical Allele Identifier: CA1725948474

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518164_92518179delinsTGTTGATCAACCCAAA , CM000669.2:g.92518164_92518179delinsTGTTGATCAACCCAAA	GRCh38
NC_000007.13:g.92147478_92147493delinsTGTTGATCAACCCAAA , CM000669.1:g.92147478_92147493delinsTGTTGATCAACCCAAA	GRCh37
NC_000007.12:g.91985414_91985429delinsTGTTGATCAACCCAAA	NCBI36
NG_008341.1:g.15353_15368delinsTTTGGGTTGATCAACA
NG_008341.2:g.15353_15368delinsTTTGGGTTGATCAACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.434_449delinsTTTGGGTTGATCAACA MANE Select	ENSP00000248633.4:p.Val145=
ENST00000248633.8:c.434_449delinsTTTGGGTTGATCAACA	ENSP00000248633.4:p.Val145=
ENST00000428214.5:c.434_449delinsTTTGGGTTGATCAACA	ENSP00000394413.1:p.Val145=
ENST00000438045.5:c.273+3923_273+3938delinsTTTGGGTTGATCAACA	ENSP00000410438.1:n.273+3923_273+3938deli...
ENST00000484913.5:n.473_488delinsTTTGGGTTGATCAACA
NM_000466.2:c.434_449delinsTTTGGGTTGATCAACA	NP_000457.1:p.Val145=
NM_001282677.1:c.434_449delinsTTTGGGTTGATCAACA	NP_001269606.1:p.Val145=
NM_001282678.1:c.-191_-176delinsTTTGGGTTGATCAACA	NP_001269607.1:n.-191_-176delinsTTTGGGTTG...
XR_242246.3:n.530_545delinsTTTGGGTTGATCAACA
XR_242246.5:n.481_496delinsTTTGGGTTGATCAACA
NM_000466.3:c.434_449delinsTTTGGGTTGATCAACA MANE Select	NP_000457.1:p.Val145=
NM_001282677.2:c.434_449delinsTTTGGGTTGATCAACA	NP_001269606.1:p.Val145=
NM_001282678.2:c.-191_-176delinsTTTGGGTTGATCAACA	NP_001269607.1:n.-191_-176delinsTTTGGGTTG...